On 23 July 2019 we shared our patient charter on newborn screening with the All Party Parliamentary Group on Rare, Genetic and Undiagnosed Conditions.
In a meeting chaired by Lord Turnberg and Catherine West MP, attendees heard presentations from Rachel Carling of Viapath, and the UK Newborn Screening Network, from Stuart Adams of Great Ormond Street Hospital and from Nick Meade, Director of Policy, Genetic Alliance UK.
The meeting was held in a room with capacity for 20, so we regret that we were not able to invite our broad membership, who were represented by Alex – The Leukodystrophy Charity, who provided the case-study for the workshop in November. The case studies will form part of our final report.
We are now asking our members to endorse the recommendations in this report – we would love to have as many of our members’ logos as possible supporting the message. These, combined with case studies will form the final report, which we will take to the Chief Medical Officers of England, Wales, Scotland and Northern Ireland, who hold the UK National Screening Committee to account. With your support our recommendations regarding a pilot of genome sequencing in newborn screening will support our Chief Executive, Jayne Spink’s contributions to the National Genomics Board.